This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392028.1:p.Gln1996His
CA371323869
ENST00000423902.7:c.5988A>C
CA371323870
ENST00000423902.7:c.5988A>T